ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1448G>A (p.Trp483Ter)

gnomAD frequency: 0.00001  dbSNP: rs1216600395
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035438 SCV001198765 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp483*) in the MFSD8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid(s) of the MFSD8 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 834700). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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